Schinzel-Giedion sendromu
Midface retraction
Kalıtsal - AD
Gelişme geriliği
Boyun kısa
Kafa tabanı sklerotik-kısa
Fontaneller ve suturalar çok geniş
Burun köküne dek uzanan metopik sutura
Kafatabanı küçük ve sklerotik
Alın bombesi yüksek/geniş
Hipertelorizm
Göz çukurları sığ
Ptozis
Burun kısa
Yüz hipoplazisi (orta bölüm)
Yüz derisinde hemangioma
Makroglossi
Kalpte atrial septum defekti
Ürogenital malformasyonlar
Hipertrikoz
Ürogenital anomaliler
Yaygın iskelet anomalileri
Beyin anomalileri
Nörolojik bulgular: epilepsi, spastik görünüm, opistotonus
Zeka geriliği
Yüksek tümör riski: embriyonal tümörler, hepatoblastoma, sakral teratom, nöroepitelyal tümörler
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Okamoto N, Takeuchi M, Kitajima H, Hosokawa S. A patient with Schinzel-Giedion syndrome and a review of 20 patients. Japanese Journal of Human Genetics, 40: 189-193, 1995
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Rittinger O, Weiss-Wichert P, Hasenohrl G. Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome (Letter). Clinical Dysmorphology, 8: 291-293, 1999
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Minn D, Christmann D, De Saint-Martin A, et al. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. American Journal of Medical Genetics, 109: 211-217, 2002
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Lehman AM, McFadden D, Pugash D, et al. Schinzel-Giedion syndrome: report of splenic pancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics A, 146A: 1299-1306, 2008
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Hoischen A, van Bon BWM, Gilissen C, et al. De novo mutations of SETBP cause Schinzel-Giedion syndrome. Nature Genetics, 42: 483-485, 2010Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter) Clin. Genet. 79: 391-393, 2011
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Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome (Letter). Clinical Genetics, 79: 391-393, 2011